AutismKB 2.0

Annotation Detail for C3orf15


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Basic Information Top
Gene Symbol:C3orf15 ( AAT1,AAT1alpha,DKFZp781A2221 )
Gene Full Name: chromosome 3 open reading frame 15
Band: 3q12-q13.3
Quick LinksEntrez ID:89876; OMIM: 609910; Uniprot ID:AAT1_HUMAN; ENSEMBL ID: ENSG00000183833; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
579Phosphothreonine.
587Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
29Phosphoserine(PKC)HMM predict
37SulfotyrosineHMM predict
132Phosphotyrosine(Syk)HMM predict
132Phosphotyrosine(SRC)HMM predict
171Phosphotyrosine(Abl)HMM predict
178O-linkedHMM predict
195Phosphotyrosine(Syk)HMM predict
209Phosphotyrosine(Jak)HMM predict
258Phosphoserine(CK1)HMM predict
261Phosphoserine(ATM)HMM predict
261Phosphoserine(CK2)HMM predict
383Phosphothreonine(PKA)HMM predict
545Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033364
  • Location:chr3 120904562-120968376
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 120891745 120891872 127 12754
CTCF CD4SISSRdata 120891745 120891872 127 12754
FOXA1 MCF7GSE15244 120902109 120902353 244 2332
Fos K562GSE19551 120897139 120897316 177 7335
NFkBII GM10847GSE19485 120901505 120902949 1444 2336
NFkBII GM12878GSE19485 120897955 120899891 1936 5640
NFkBII GM12878GSE19485 120900944 120903042 2098 2570
NFkBII GM12892GSE19485 120901266 120903297 2031 2281
NFkBII GM15510GSE19485 120901475 120903469 1994 2091
RARA MCF7GSE15244 120902109 120902424 315 2296
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 120972351 120972509 158 4054
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 120904552 120904848 296 0
FOXA1 MCF7GSE15244 120905499 120905870 371 0
SRF HelaGSE8489 120946013 120947149 1136 0
hScc1 BcellGSE12603 120904552 120904911 359 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018